List of variants studied for Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	rs199589947	0.00025
NM_015340.4(LARS2):c.1289C>T (p.Ala430Val)	rs879255606
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)	rs1575289366
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile)	rs1575308774
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr)	rs1575240334
NM_015340.4(LARS2):c.683G>A (p.Arg228His)	rs770440975

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